Links from Nucleotide
Items: 1 to 20 of 714
1.
rs1489095573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:14169326
(GRCh38)
19:14280138
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14169325:G:A
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
2.
rs1488475910 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGAGAAGG
[Show Flanks]
- Chromosome:
- 19:14170239
(GRCh38)
19:14281052
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14170239:TGAGAAGG:TGAGAAGGTGAGAAGG
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGAGAAGGTGAGAAGG=0./0
(
ALFA)
TGAGAAGG=0.000004/1
(TOPMED)
- HGVS:
5.
rs1485200445 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 19:14169530
(GRCh38)
19:14280342
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14169529:A:C,NC_000019.10:14169529:A:G,NC_000019.10:14169529:A:T
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.009346/2
(Vietnamese)
- HGVS:
NC_000019.10:g.14169530A>C, NC_000019.10:g.14169530A>G, NC_000019.10:g.14169530A>T, NC_000019.9:g.14280342A>C, NC_000019.9:g.14280342A>G, NC_000019.9:g.14280342A>T, NW_021160022.1:g.381689A>C, NW_021160022.1:g.381689A>G, NW_021160022.1:g.381689A>T, NR_045214.1:n.1154A>C, NR_045214.1:n.1154A>G, NR_045214.1:n.1154A>T
6.
rs1484728942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:14170355
(GRCh38)
19:14281167
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14170354:T:C
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
7.
rs1483182836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:14168798
(GRCh38)
19:14279610
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14168797:G:A
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
8.
rs1482835069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:14137218
(GRCh38)
19:14248030
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14137217:C:T
- Gene:
- ASF1B (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
9.
rs1482585962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:14170548
(GRCh38)
19:14281360
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14170547:G:C
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
10.
rs1482493798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:14169491
(GRCh38)
19:14280303
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14169490:G:A,NC_000019.10:14169490:G:C
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1482262365 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:14170083
(GRCh38)
19:14280895
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14170082:A:G
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1481713132 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:14169993
(GRCh38)
19:14280805
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14169992:G:A
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1481678253 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:14155189
(GRCh38)
19:14266001
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14155188:G:A
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1479975735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:14171078
(GRCh38)
19:14281890
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14171077:T:C
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
15.
rs1479945916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:14170381
(GRCh38)
19:14281193
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14170380:C:T
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
16.
rs1478876154 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:14169806
(GRCh38)
19:14280618
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14169805:A:C
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
17.
rs1476447013 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:14155474
(GRCh38)
19:14266286
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14155473:G:A
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000019.10:g.14155474G>A, NC_000019.9:g.14266286G>A, NW_021160022.1:g.367633G>A, NM_014921.5:c.3179C>T, NM_014921.4:c.3179C>T, XM_005259818.4:c.3179C>T, XM_005259818.3:c.3179C>T, XM_005259818.2:c.3179C>T, XM_005259818.1:c.3179C>T, XM_011527796.3:c.3215C>T, XM_011527796.2:c.3215C>T, XM_011527796.1:c.3215C>T, XM_011527798.3:c.3200C>T, XM_011527798.2:c.3200C>T, XM_011527798.1:c.3200C>T, NM_001008701.3:c.3194C>T, NM_001008701.2:c.3194C>T, XM_011527801.3:c.3086C>T, XM_011527801.2:c.2975C>T, XM_011527801.1:c.2975C>T, XM_024451420.2:c.3218C>T, XM_024451420.1:c.3218C>T, XM_017026476.2:c.3218C>T, XM_017026476.1:c.3218C>T, XM_017026475.2:c.3218C>T, XM_017026475.1:c.3218C>T, XM_017026477.2:c.3197C>T, XM_017026477.1:c.3197C>T, XM_017026478.2:c.3218C>T, XM_017026478.1:c.3218C>T, XM_017026479.2:c.3218C>T, XM_017026479.1:c.3218C>T, XM_017026480.2:c.3071C>T, XM_017026480.1:c.2960C>T, XM_047438414.1:c.3200C>T, XM_047438413.1:c.3218C>T, XM_047438416.1:c.3179C>T, XM_047438415.1:c.3179C>T, XM_047438417.1:c.3197C>T, XM_047438418.1:c.3179C>T, NR_045214.1:n.395G>A, XM_047438419.1:c.3086C>T, NP_055736.2:p.Ala1060Val, XP_005259875.1:p.Ala1060Val, XP_011526098.1:p.Ala1072Val, XP_011526100.1:p.Ala1067Val, NP_001008701.1:p.Ala1065Val, XP_011526103.2:p.Ala1029Val, XP_024307188.1:p.Ala1073Val, XP_016881965.1:p.Ala1073Val, XP_016881964.1:p.Ala1073Val, XP_016881966.1:p.Ala1066Val, XP_016881967.1:p.Ala1073Val, XP_016881968.1:p.Ala1073Val, XP_016881969.2:p.Ala1024Val, XP_047294370.1:p.Ala1067Val, XP_047294369.1:p.Ala1073Val, XP_047294372.1:p.Ala1060Val, XP_047294371.1:p.Ala1060Val, XP_047294373.1:p.Ala1066Val, XP_047294374.1:p.Ala1060Val, XP_047294375.1:p.Ala1029Val
18.
rs1475903798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:14170947
(GRCh38)
19:14281759
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14170946:T:C
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.00003/8
(TOPMED)
- HGVS:
19.
rs1474212111 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:14170057
(GRCh38)
19:14280869
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14170056:C:A
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1472173420 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:14169012
(GRCh38)
19:14279824
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14169011:C:T
- Gene:
- ADGRL1 (Varview), ADGRL1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS: